LiFraumeni Syndrome

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder; its population incidence is unknown, although 108 families with TP53 germ-line mutations were reported from 1990 to 1996 [62]. Diagnostic criteria are: (1) occurrence of sarcoma before age 45 years, (2) at least one first-degree relative with any tumor before age 45 years, or (3) a second- (or first)-degree relative with cancer before 45 years or a sarcoma at any age [63-65].

Brain tumors are a recognized component of LFS [66]. In a cohort study of 28 LFS families with germline TP53 mutations, the risk of CNS tumors at age

15-29 years was 32 times that in the general population [67]. The spectrum of CNS tumors associated with LFS reflects the age incidence of other tumors in the adolescent and young adult population, with astrocytomas predominating [62]. The mean age at presentation of a CNS tumor in patients with LFS is 25.9 years - the third youngest age category. Sarcomas (mean age 16.7 years) and adrenal tumors (mean age 4.7 years) present earlier in life. Multiple tumors in those with LFS are well recognized; prior CNS irradiation may confer additional risk.

Of those CNS tumors reported to be associated with LFS, the age-incidence pattern is preserved, with childhood embryonal (PNET), ependymal and choroid plexus tumors arising in childhood, and the astrocytic tumors (low-grade, anaplastic, glioblastoma, oligoastrocytoma, and gliosarcoma) arising in the adolescent and young adult and adult years.

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